All transcript variants in gene CAPN13

Information The variants shown are described using the NM_144575.2 transcript reference sequence.

1 entry on 1 page. Showing entry 1.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.699+1G>A r.spl? p.? g.30986997C>T Copied from the Exome Variant Server CAPN13_000143 1/12358 0/8324 1/4034
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